Linked Data
ClinVar Variation Id:
699843
dbSNP Id:
rs758440879
ExAC:
1:241667394 A / G
gnomAD v2:
1-241667394-A-G
gnomAD v4:
1-241504094-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504094A>G , CM000663.2:g.241504094A>G | GRCh38 |
| NC_000001.10:g.241667394A>G , CM000663.1:g.241667394A>G | GRCh37 |
| NC_000001.9:g.239734017A>G | NCBI36 |
| NG_012338.1:g.20661T>C , LRG_504:g.20661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1559T>C | ||
| ENST00000682162.1:c.1085T>C | ENSP00000508203.1:n.1085T>C | |
| ENST00000682567.1:n.1133T>C | ||
| ENST00000683521.1:c.1056T>C | ENSP00000506864.1:p.Gly352= | |
| ENST00000684161.1:n.2271T>C | ||
| ENST00000684483.1:c.*452T>C | ENSP00000507894.1:n.*452T>C | |
| ENST00000366560.4:c.1056T>C MANE Select | ENSP00000355518.4:p.Gly352= | |
| ENST00000366560.3:c.1056T>C | ENSP00000355518.3:p.Gly352= | |
| NM_000143.3:c.1056T>C , LRG_504t1:c.1056T>C | NP_000134.2:p.Gly352= | |
| XM_011544132.1:c.828T>C | XP_011542434.1:p.Gly276= | |
| XM_011544132.2:c.828T>C | XP_011542434.1:p.Gly276= | |
| NM_000143.4:c.1056T>C MANE Select | NP_000134.2:p.Gly352= |